Recombinant Human Solute carrier family 40 member 1 (SLC40A1)

1. SLC40A1 expression is increased in the intestine of patients with type 2 diabetes in association with iron stores and serum hepcidin levels. PMID: 29082606
2. In this study, we identified three domestic sporadic families of hereditary hemochromatosis in China and demonstrated mutations in HFE and SLC40A1 respectively. PMID: 28110135
3. The 1st 3D model of human ferroportin was used to study disease-associated mutations to determine the role of conserved residues in protein stability and iron transport. Molecular mechanisms critical for ferroportin endocytosis include at least 3 fundamental steps: hepcidin binding, structural reorganization of the N- and C-ter ferroportin lobes, and ferroportin ubiquitination. PMID: 28826751
4. SLC40A1 mutation analysis in 7 Italian families with type 4 hereditary hemochromatosis PMID: 29154924
5. Ferroportin protects erythrocytes against oxidative stress and malaria infection. PMID: 29599243
6. Nrf2 suppresses prostate cancer cells viability, migration, and mitosis by upregulating ferroportin expression. PMID: 27788496
7. Of the non-HFE forms of iron overload, TFR2-, HFE2-, and HAMP-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans PMID: 26633544
8. Of the 13 iron-overloaded patients showed that 10 were homozygous for the c.44-24G>C polymorphism located in intron 1, whereas the three remaining patients were heterozygous for this sequence variation. Several reports have suggested that this polymorphism could be linked to IO and/or to the severity of haemochromatosis. PMID: 26474245
9. study followed the dynamics of hepcidin-mediated ferroportin internalization; also showed that the novel p.D84E mutation, associated with the classical form of ferroportin disease, is both iron transport defective and hepcidin insensitive PMID: 28681497
10. Reduced expression of ferroportin mRNA identifies a subset of infertile women and may constitute a target for therapy. PMID: 27842994
11. FPN1 cycles as a monomer within the endocytic/plasma membrane compartment and responds to its physiological inhibitor, Hepc, in both control and ferroportin disease (FD) cells. However, in FD, FPN1 fails to reach the cell surface when cells undergo high iron turnover. PMID: 28027576
12. These results suggest that FPN1 exports iron received from the iron chaperone PCBP2. Therefore, it was found that PCBP2 modulates cellular iron export, which is an important physiological process. PMID: 27302059
13. All these findings suggest that in erythroid cells FPN1 could be part of the signaling pathway through which the erythron communicates iron needs to expand the erythroid compartment regardless of systemic iron level. PMID: 27067485
14. Mir-20a controls expression of the iron exporter ferroportin (FPN1) by binding to highly conserved target sites in its 3'-untranslated region. Expression of miR-20a is inversely correlated to FPN1 in lung cancer. PMID: 26560875
15. The concentration of functional membrane-associated ferroportin is controlled by its ligand, the iron-regulatory hormone hepcidin, and fine-tuned by regulatory mechanisms serving iron homeostasis, oxygen utilization, host defense, and erythropoiesis. PMID: 26437604
16. Low hepcidin and high ferroportin expression by erythroblasts and macrophages were seen in iron deficiency anemia, while the opposite was true in anemia of chronic disorders. PMID: 25745821
17. Erythroblasts from Beta-thalassemia patients showed a significantly reduced expression of total MTP1 protein. PMID: 26666535
18. Several family members had hemochromatosis and hyperferritinemia associated with a SLC40A1 deletion in exon 5(485_487delTTG) resulting in the deletion of a valine residue (p.V162del). This is the 1st Spanish family reported with this European mutation. PMID: 25441019
19. TLR4 dependent macrophage signaling is controlled via hepcidin-ferroportin1 axis by influencing TLR4-lipid raft interactions PMID: 26125411
20. study of healthy adults provides further evidence that ferroportin Q248H mutation affects serum ferritin concentration in Africans PMID: 25744489
21. Single nucleotide polymorphisms in HAMP, BMP2, FTL and SLC40A1 genes have phenotype-modifying roles in hereditary hemochromatosis type 1. PMID: 25976471
22. Decreased expression of hepcidin and ferroportin in hepatitis C patients indicates the importance of hepatocytic iron retention for viral response during pegylated-interferon plus ribavirin treatment. PMID: 25805936
23. Data indicate that elevated miR-492 expression in prostate tumors that resulted in diminished myeloid zinc-finger 1 (MZF-1) and ferroportin (FPN). PMID: 25284586
24. we demonstrated that downregulation of FPN1 plays critical roles in promoting myeloma cell growth and bone resorption in multiple myeloma. PMID: 25855377
25. The effects of abnormal FPN on tumor growth and the molecular mechanisms of diminished tumor FPN, were examined. PMID: 25451081
26. The expression of duodenal Fpn1 is negatively correlated with mRNA levels of hepcidin, and positively correlated with serum iron parameters. PMID: 25330009
27. Chlorpyrifos elevates ferroportin expression through transcriptional regulation. PMID: 25176568
28. combined data overall deciphered the machinery that altered the hepcidin-ferroportin signaling in breast cancers. PMID: 25093806
29. Results suggest that reduction in ferroportin levels in Alzheimer's disease brains are likely associated with cerebral ischaemia, inflammation, loss of neurons due to protein misfolding, senile plaque formation and possibly ageing process itself PMID: 24252754
30. Findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease. PMID: 24644245
31. D181V and A69T ferroportin mutation is associated with hemochromatosis. PMID: 24859227
32. Tryptophan residue 42, which is localized within the extracellular end of the ferroportin pore, is likely involved in the iron export function of SLC40A1. PMID: 23784628
33. Manganese (Mn) transport carriers DMT1 and FPN1 mediate the apical uptake and basolateral exit of Mn in colonic epithelial Caco-2 cells. PMID: 23996061
34. Ferroportin is an iron-preferring cellular metal-efflux transporter with a narrow substrate profile that includes cobalt and zinc. PMID: 24304836
35. The Q248H mutation in ferroportin was associated with hyperferritinemia and aytpical type 2 diabetes mellitus in patients from South Kivu. PMID: 23680252
36. A model is proposed that suggests that unlike proteases, which are irreversibly bound to activated alpha2M, hepcidin remains labile and available to down-regulate Fpn1. PMID: 23846698
37. ferroportin Q248H protein is resistant to physiological concentrations of hepcidin and that this mutation has discernible effects on iron metabolism-related clinical complications of sickle cell anemia. PMID: 23065513
38. Iron efflux from human brain microvasculature endothelial cells ferroportin requires the action of an exocytoplasmic ferroxidase which can be either endogenous hephaestin or extracellular ceruloplasmin. PMID: 23640881
39. ferroportin polymorphism and iron homeostasis and infection [review] PMID: 23178444
40. Nitric oxide up-regulated the expression of ferroportin-1 (Fpn1), the major cellular iron exporter, in mouse and human cells. PMID: 23630227
41. Our study suggests that GDF15 induction helps suppress further activation of macrophages in stressful physiologic states as hemophagocytic lymphohistiocytosis...resulting in enhanced ferroportin-mediated iron efflux. PMID: 23335088
42. Letter: report mutations in SLC40A1 promoter in and possible role in iron hemostasis in patients with porphyria cutanea tarda. PMID: 23012398
43. Data suggest that FPN-1 expression in enterocytes increases upon zinc supplementation and decreases with iron or zinc depletion; FPN-1 appears to be involved in efflux of excess sequestered iron and thus helps maintain cellular iron homeostasis. PMID: 22137264
44. labeled hepcidin was also a suitable tool to visualize internalization of overexpressed or even endogenously expressed ferroportin without tags PMID: 22776295
45. Mutations in the SLC40A1 gene is associated with hemochromatosis. PMID: 22890139
46. Hepcidin-induced ferroportin internalization did not require JAK2 or phosphorylation of ferroportin residues 302 and 303 PMID: 22682226
47. human ferroportin mutation K240E, previously associated with clinical iron overload, caused hepcidin resistance in vitro by interfering with ferroportin ubiquitination PMID: 22682227
48. the present study demonstrated the presence of ferroportin 1 in cultured human osteoblast cells. Furthermore, the osteoblast ferroportin 1 is functionally regulated by hepcidin. PMID: 22246570
49. Placental FPN1 expression is not dependent on the iron regular element/iron regular protein regulation. PMID: 22170436
50. Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women. PMID: 22249207

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HGNC: 10909

OMIM: 604653

KEGG: hsa:30061

STRING: 9606.ENSP00000261024

UniGene: Hs.643005